Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10379278" target="_blank" >RIV/00216208:11130/18:10379278 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14110/18:00104212 RIV/65269705:_____/18:00069536 RIV/00064203:_____/18:10379278

Result on the web

<a href="https://doi.org/10.1186/s13023-018-0889-0" target="_blank" >https://doi.org/10.1186/s13023-018-0889-0</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s13023-018-0889-0" target="_blank" >10.1186/s13023-018-0889-0</a>

Result language

angličtina

Original language name

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Original language description

Background: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania). Results: The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over (sic) 200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact. Conclusions: The community should consider how to maximise this collective resource in future therapeutic programmes.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

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Volume of the periodical

13

Issue of the periodical within the volume

September

Country of publishing house

GB - UNITED KINGDOM

Number of pages

11

Pages from-to

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UT code for WoS article

000443735900002

EID of the result in the Scopus database

2-s2.0-85053164564